FAM111A mutations result in hypoparathyroidism and impaired skeletal development (Q36909275)

Antony Le Béchec

3

0 references

Maria W. Górna

Maria W Górna

2

0 references

Giedre Grigelioniene

Giedre Grigelioniene

7

0 references

Giulio Superti-Furga

Giulio Superti-Furga

Francisca Rojas-Ringeling

22

0 references

Francisca Rojas-Ringeling

15

0 references

Sheila Unger

Sheila Unger

1

0 references

Luisa Bonafé

21

Luisa Bonafé

1 reference

17 August 2017

Belinda Campos-Xavier

20

Belinda Campos-Xavier

1 reference

17 August 2017

13

Gen Nishimura

1 reference

17 August 2017

Sonia Do Vale-Pereira

4

1 reference

17 August 2017

Maria Francesca Bedeschi

5

1 reference

17 August 2017

Stefan Geiberger

6

1 reference

17 August 2017

Eva Horemuzova

8

1 reference

17 August 2017

Faustina Lalatta

9

1 reference

17 August 2017

Ekkehart Lausch

10

1 reference

17 August 2017

Cinzia Magnani

11

1 reference

17 August 2017

Sheela Nampoothiri

12

1 reference

17 August 2017

Duccio Petrella

14

1 reference

17 August 2017

Akari Utsunomiya

16

1 reference

17 August 2017

Bernhard Zabel

17

1 reference

17 August 2017

Sylvain Pradervand

18

1 reference

17 August 2017

Keith Harshman

19

1 reference

17 August 2017

Brian Stevenson

American Journal of Human Genetics

23

1 reference

17 August 2017

language of work or name

English

0 references

publication date

16 May 2013

1 reference

17 August 2017

1 reference

17 August 2017

92

1 reference

17 August 2017

990-995

1 reference

17 August 2017

6

1 reference

17 August 2017

An integrated map of genetic variation from 1,092 human genomes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3675238

Identification of FAM111A as an SV40 host range restriction and adenovirus helper factor

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3675238

The CoLaus study: a population-based study to investigate the epidemiology and genetic determinants of cardiovascular risk factors and metabolic syndrome

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3675238

Mutation of TBCE causes hypoparathyroidism-retardation-dysmorphism and autosomal recessive Kenny-Caffey syndrome

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3675238

Parathyroid hormone is essential for normal fetal bone formation

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3675238

Familial isolated hypoparathyroidism caused by a mutation in the gene for the transcription factor GCMB.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3675238

dbSNP: the NCBI database of genetic variation

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3675238

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3675238

A donor splice site mutation in the parathyroid hormone gene is associated with autosomal recessive hypoparathyroidism

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3675238

Dwarfism and congenital medullary stenosis (Kenny syndrome).

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3675238

Kenny syndrome: evidence for idiopathic hypoparathyroidism in two patients and for abnormal parathyroid hormone in one.

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3675238

Nosology and classification of genetic skeletal disorders: 2010 revision.

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3675238

Parietal bone agenesis with gracile bones and splenic hypoplasia/aplasia: clinico-pathologic report and differential diagnosis with review of cranio-gracile bone syndromes, "osteocraniostenosis" and Kleeblattschädel

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3675238

Osteocraniostenosis-hypomineralized skull with gracile long bones and splenic hypoplasia. Four new cases with distinctive chondro-osseous morphology.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3675238

Dwarfism and cortical thickening of tubular bones. Transient hypocalcemia in a mother and son

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3675238

Congenital stenosis of medullary spaces in tubular bones and calvaria in two proportionate dwarfs--mother and son; coupled with transitory hypocalcemic tetany

4 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23684011

12 December 2020

inferred from PubMed ID database lookup

The Kenny syndrome, a rare type of growth deficiency with tubular stenosis, transient hypoparathyroidism and anomalies of refraction

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23684011

12 December 2020

inferred from PubMed ID database lookup

Analysis of the GCM2 gene in isolated hypoparathyroidism: a molecular and biochemical study

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23684011

12 December 2020

inferred from PubMed ID database lookup

Identifiers

DOI

10.1016/J.AJHG.2013.04.020

1 reference

17 August 2017

release_bidx3ed4kvaozhzs47jzoptky4

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/bidx3ed4kvaozhzs47jzoptky4

24 November 2022